For Symptoms Involving: Development, Hearing, Musculoskeletal System, Nervous System, Vision
Number of Alleles Tested: 114 |
|
Condition |
Gene(s) |
Chondrodysplasia 1-7 |
ACAN, EVC2, FGFR3 |
Pulmonary Hypoplasia and Anasarca Syndrome (PHA) |
ADAMTS3 |
Contractural Arachnodactyly (Fawn calf syndrome) |
ADAMTSL3 |
Arthrogryposis Multiplex Congenita (Curly Calf Syndrome) 1-3 |
AGRN, CHRNB1, PIGH |
Tibial Hemimelia 1, 2 |
ALX4 |
Cholesterol Deficiency (CD) |
APOB |
Citrullinemia |
ASS1 |
Congenital Muscular Dystonia 1 (CMD1) |
ATP2A1 |
Congenital Pseudomyotonia 1, 2 (PMT 1, 2) |
ATP2A1 |
Maple Syrup Urine Disease 1, 2 (MSUD 1, 2) |
BCKDHA |
Seckel-like Syndrome (SHGC) |
CEP250 |
Neurocristopathy |
CHD7 |
Myasthenic Syndrome |
CHRNE |
Osteopetrosis with gingival hamartomas 1, 2 |
CLCN7, SLC4A2 |
Renal Tubular Dysplasia (RTD1, 2) 1, 2 |
CLDN16 |
Neuronal Ceroid Lipofuscinosis 5 (NCL5) |
CLN5 |
Osteogenesis Imperfecta Type II 1, 2 |
COL1A1 |
Achondrogenesis Type II 1-7 (Bulldog calf syndrome 1-7) |
COL2A1 |
Morgagnian Cataract |
CPAMD8 |
Marfan Syndrome (MFS) 1, 2 |
FBN1 |
Facial Dysplasia Syndrome |
FGFR2 |
Trimethylaminuria |
FMO3 |
Generalized Glycogenosis Type II 1-3 |
GAA |
Dwarfism 1-4 |
GH1, GON4L, PRKG2, RNF11 |
Myoclonus |
GLRA1 |
Diaphragmatic Muscle Myopathy (HMDM) |
HSPA1A |
Perinatal Weak Calf Syndrome |
IARS |
Immunodeficiency |
IL17RA |
Leukocyte Adhesion Deficiency |
ITGB2 |
Lethal Multi-Organ Developmental Dysplasia |
KDM2B |
Spinal Muscular Atrophy |
KDSR |
Hypomyelinogenesis |
KIF1C |
Hypotrichosis 2 |
KRT71 |
Congenital Muscular Dystonia 2 (CMD2) |
SLC6A5 |
Syndactyly 1-5 |
LRP4 |
Alpha-Mannosidosis 1, 2 |
MAN2B1 |
Beta-Mannosidosis 1 |
MANBA |
Degenerative Axonopathy |
MFN2 |
Microphthalmia |
MITF |
Dominant White with Bilateral Deafness 1, 2 |
MITF |
Xanthinuria Type II 1, 2 |
MOCOS |
Arachnomelia 1, 2 |
MOCS1, SUOX |
Crooked Tail Syndrome 1, 2 |
MRC2 |
Double Muscling 1-9 |
MSTN |
Arthrogryposis Type 1B |
MYBPC1 |
Mucopolysaccharidosis IIIB |
NAGLU |
Polymelia and Neural Tube Defects |
NHLRC2 |
Cataracts |
NID1 |
Niemann-Pick Disease Type 1 |
NPC1 |
Abortion 11, 12 |
OBFC1, PFAS |
Dilated Cardiomyopathy |
OPA3 |
Zinc Deficiency-Like Syndrome |
PLD4 |
Progressive Degenerative Myeloencephalopathy |
PNPLA8 |
Cardiomyopathy |
PPP1R13L |
Bovine Spongiform Encephalopathy |
PRNP |
Glycogen Storage Disease V |
PYGM |
Interdigital Hyperplasia |
ROR2 |
Retinitis Pigmentosa |
RP1 |
Tetradysmelia |
RSPO2 |
Fanconi-Bickel Syndrome |
SLC2A2 |
Turning Calves Syndrome |
SLC25A46 |
Complex Vertebral Malformation 1, 2 |
SLC35A3 |
Spinal Dysmyelination |
SPAST |
Vertebral and Spinal Dysplasia |
T |
PIRM Syndrome |
UBE3B |
Multiple Ocular Defects (MOD) |
WFDC1 |
Polled and Multisystemic Syndrome (PMS) 1, 2 |
ZEB2 |
Frontonasal Dysplasia 1 |
ZIC2 |